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The Genetic Basis of NEC Susceptibility
Published in David J. Hackam, Necrotizing Enterocolitis, 2021
Lovya George, Wei Yu, Alain Cuna, Venkatesh Sampath
PAF is an endogenous phospholipid with potent proinflammatory actions (32). Infants with NEC have increased plasma levels of PAF, and administration of intravenous PAF in animal models induces NEC (33, 34). Platelet-activating factor acetyl hydrolase (PAFAH)—an enzyme that degrades PAF—has decreased activity and concentration in infants with NEC. Enteral administration of recombinant PAFAH in animal models results in a significant decrease in NEC (34, 35). Sankararaman et al. (36) evaluated the role of functional PAFAH polymorphisms in a cohort of 570 preterm infants (36 with stage 1 or 2 NEC) and found no evidence of association between PAFAH SNPs and NEC. In contrast, Zhou et al. (18) evaluated SNPs of GM2 activator protein (GM2A), which is another PAF antagonist, in a Chinese cohort of 125 infants (42 with NEC) and found a positive association between NEC and two variants of GM2A: rs1048719 and rs2075783. This study was limited by the inclusion of term infants, making it difficult to determine whether the differences detected were due to prematurity or NEC.
Hereditary and Metabolic Diseases of the Central Nervous System in Adults
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Gene frequency depends on the population. For HEXA, the carrier rate is 1:25–30 in Ashkenazi Jews, 1 per 2500–3600 prior to carrier screening. The carrier rate for Louisiana Cajun, French Canadian, and Pennsylvania Dutch populations is 1:50. The carrier rate for most populations is 1:250–1:300. Prevalence is 1 per 309,000 live births. For GM2A, the gene frequency is unknown.
Improved radiation expression profiling in blood by sequential application of sensitive and specific gene signatures
Published in International Journal of Radiation Biology, 2022
Eliseos J. Mucaki, Ben C. Shirley, Peter K. Rogan
Genes which encode secreted proteins were used to derive new radiation gene expression signatures using our previously described methods (Zhao et al. 2018a). The plasma protein-encoding gene GM2A had the highest MI with radiation in dataset RadTBI-2 (MI = 0.31), while TRIM24 was highest in dataset RadTBI-3 (MI = 0.27; Suppl. Table S1). GM2A is absent from dataset RadTBI-3. MI of TRIM24 was low in RadTBI-2 (MI = 0.05) resulting in it being ranked second to last (Suppl. Table S1) and it was not differentially expressed in this dataset (p value >.05 by t-test; Suppl. Table S6C). Other top 50 ranked genes by mRMR in both datasets include ACYP1, B4GALT5, FBXW7, IRAK3, MSRB2, NBL1, PRF1, SPOCK2, and TOR1A.